Now showing items 1-6 of 6

    • A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice 

      Hölter, Sabine M.; Stromberg, Mary; Kovalenko, Marina; Garrett, Lillian; Glasl, Lisa; Lopez, Edith; Guide, Jolene; Götz, Alexander; Hans, Wolfgang; Becker, Lore; Rathkolb, Birgit; Rozman, Jan; Schrewed, Anja; Klingenspor, Martin; Klopstock, Thomas; Schulz, Holger; Wolf, Eckhard; Wursta, Wolfgang; Gillis, Tammy; Wakimoto, Hiroko; Seidman, Jonathan; MacDonald, Marcy E.; Cotman, Susan; Gailus-Durner, Valérie; Fuchs, Helmut; de Angelis, Martin Hrabě; Lee, Jong-Min; Wheeler, Vanessa C. (Public Library of Science, 2013)
      Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the HTT gene encoding huntingtin. The disease has an insidious course, typically ...
    • Genome-wide Significance for a Modifier of Age at Neurological Onset in Huntington's Disease at 6q23-24: The HD MAPS Study 

      Li, Jian-Liang; Hayden, Michael R; Warby, Simon C; Durr, Alexandra; Morrison, Patrick J; Nance, Martha; Ross, Christopher A; Margolis, Russell L; Rosenblatt, Adam; Squitieri, Ferdinando; Frati, Luigi; Gómez-Tortosa, Estrella; García, Carmen Ayuso; Suchowersky, Oksana; Klimek, Mary Lou; Trent, Ronald JA; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Paulsen, Jane S; Jones, Randi; Ashizawa, Tetsuo; Lazzarini, Alice; Prakash, Ranjana; Djoussé, Luc; Mysore, Jayalakshmi Srinidhi; Gillis, Tammy; Hakky, Michael; Cupples, L Adrienne; Saint-Hilaire, Marie H; Penney, John B; Harrison, Madaline B; Perlman, Susan L; Zanko, Andrea; Abramson, Ruth K; Lechich, Anthony J; Duckett, Ayana; Marder, Karen; Conneally, P Michael; Wheeler, Vanessa Chantal; Xu, Gang; Cha, Jang-Ho J.; Hersch, Steven M.; Gusella, James Francis; MacDonald, Marcy Elizabeth; Myers, Richard Hepworth (BioMed Central, 2006)
      Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to ...
    • HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes 

      Galkina, Ekaterina I.; Shin, Aram; Coser, Kathryn R.; Shioda, Toshi; Kohane, Isaac S.; Seong, Ihn Sik; Wheeler, Vanessa C.; Gusella, James F.; MacDonald, Marcy E.; Lee, Jong-Min (Public Library of Science, 2014)
      Background: The length of the huntingtin (HTT) CAG repeat is strongly correlated with both age at onset of Huntington’s disease (HD) symptoms and age at death of HD patients. Dichotomous analysis comparing HD to controls ...
    • Huntingtin Facilitates Polycomb Repressive Complex 2 

      Woda, Juliana M.; Song, Ji-Joon; Lloret, Alejandro; Abeyrathne, Priyanka D.; Gregory, Gillian; Lee, Jong-Min; Conlon, Ronald A.; Seong, Ihn Sik; Woo, Caroline; Wheeler, Vanessa Chantal; Walz, Thomas; Kingston, Robert Edward; Gusella, James Francis; MacDonald, Marcy Elizabeth (Oxford University Press, 2009)
      Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a predominant HEAT repeat α-solenoid, implying a role as a ...
    • Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches 

      Pinto, Ricardo Mouro; Dragileva, Ella; Kirby, Andrew; Lloret, Alejandro; Lopez, Edith; St. Claire, Jason; Panigrahi, Gagan B.; Hou, Caixia; Holloway, Kim; Gillis, Tammy; Guide, Jolene R.; Cohen, Paula E.; Li, Guo-Min; Pearson, Christopher E.; Daly, Mark J.; Wheeler, Vanessa C. (Public Library of Science, 2013)
      The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may therefore provide routes for therapies targeting the underlying ...
    • Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice 

      Kovalenko, Marina; Dragileva, Ella; St. Clare, Jason; Gillis, Tammy; Guide, Jolene; New, Jaclyn; Dong, Hualing; Kucherlapati, Raju; Kucherlapati, Melanie; Ehrlich, Michelle E.; Lee, Jong-Min; Wheeler, Vanessa (2012-09-07)
      The CAG trinucleotide repeat mutation in the Huntington’s disease gene (HTT) exhibits age-dependent tissue-specific expansion that correlates with disease onset in patients, implicating somatic expansion as a disease ...